University of Western Australia, 35 Stirling Highway, Crawley, Western Australia, 6009.
PathWest Laboratory Medicine, Queen Elizabeth II Medial Centre, Hospital Avenue, Nedlands, Western Australia, 6009.
Cardiovasc Pathol. 2018 Jul-Aug;35:48-51. doi: 10.1016/j.carpath.2018.04.006. Epub 2018 Apr 24.
Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype.
埃勒斯-当洛斯综合征由一组不同的遗传性结缔组织疾病组成，由多种基因突变引起。我们报告了一例不寻常的血管型埃勒斯-当洛斯综合征病例，其具有独特的体格特征和表现为孤立性左心室致密化不全的心肌病。心脏特征代表了 COL3A1 基因突变相关心肌病的首例报告。该病例还说明了埃勒斯-当洛斯综合征的多系统性质以及血管型患者管理的复杂性。
